Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150998945G>A | CA369854314 | NOS3 | c.817-1G>A (n.817-1G>A) c.199-1G>A (n.199-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150998945G>C | CA369854315 | NOS3 | c.817-1G>C (n.817-1G>C) c.199-1G>C (n.199-1G>C) | |
7 | g.150998945G= | CA1752470752 | NOS3 | c.817-1G= (n.817-1G=) c.199-1G= (n.199-1G=) | |
7 | g.150998945G>T | CA369854316 | NOS3 | c.817-1G>T (n.817-1G>T) c.199-1G>T (n.199-1G>T) | |
7 | g.150998946C>A | CA369854317 | NOS3 | c.817C>A (p.Leu273Ile) c.199C>A (p.Leu67Ile) | |
7 | g.150998946C>G | CA369854318 | NOS3 | c.817C>G (p.Leu273Val) c.199C>G (p.Leu67Val) | |
7 | g.150998946C>T | CA369854319 | NOS3 | c.817C>T (p.Leu273Phe) c.199C>T (p.Leu67Phe) | |
7 | g.150998947T>A | CA369854320 | NOS3 | c.818T>A (p.Leu273His) c.200T>A (p.Leu67His) | |
7 | g.150998947T>C | CA369854321 | NOS3 | c.818T>C (p.Leu273Pro) c.200T>C (p.Leu67Pro) | |
7 | g.150998947T>G | CA369854322 | NOS3 | c.818T>G (p.Leu273Arg) c.200T>G (p.Leu67Arg) | |
7 | g.150998948C>A | CA458872004 | NOS3 | c.819C>A (p.Leu273=) c.201C>A (p.Leu67=) | |
7 | g.150998948C= | CA1752470753 | NOS3 | c.819C= (p.Leu273=) c.201C= (p.Leu67=) | |
7 | g.150998948C>G | CA458872005 | NOS3 | c.819C>G (p.Leu273=) c.201C>G (p.Leu67=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150998948C>T | CA458872006 | NOS3 | c.819C>T (p.Leu273=) c.201C>T (p.Leu67=) | |
7 | g.150998949T>A | CA369854325 | NOS3 | c.820T>A (p.Cys274Ser) c.202T>A (p.Cys68Ser) | |
7 | g.150998949T>C | CA369854324 | NOS3 | c.820T>C (p.Cys274Arg) c.202T>C (p.Cys68Arg) | |
7 | g.150998949T>G | CA369854323 | NOS3 | c.820T>G (p.Cys274Gly) c.202T>G (p.Cys68Gly) | |
7 | g.150998950del | CA2740901150 | NOS3 | c.821del (p.Cys274SerfsTer?) c.203del (p.Cys68SerfsTer?) | |
7 | g.150998950G>A | CA369854326 | NOS3 | c.821G>A (p.Cys274Tyr) c.203G>A (p.Cys68Tyr) | |
7 | g.150998950G>C | CA369854327 | NOS3 | c.821G>C (p.Cys274Ser) c.203G>C (p.Cys68Ser) | |
7 | g.150998950G>T | CA369854328 | NOS3 | c.821G>T (p.Cys274Phe) c.203G>T (p.Cys68Phe) | |
7 | g.150998951C>A | CA369854329 | NOS3 | c.822C>A (p.Cys274Ter) c.204C>A (p.Cys68Ter) | dbSNP |
7 | g.150998951C= | CA1752470754 | NOS3 | c.822C= (p.Cys274=) c.204C= (p.Cys68=) | |
7 | g.150998951C>G | CA369854330 | NOS3 | c.822C>G (p.Cys274Trp) c.204C>G (p.Cys68Trp) | |
7 | g.150998951C>T | CA4566772 | NOS3 | c.822C>T (p.Cys274=) c.204C>T (p.Cys68=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150998952A>C | CA369854331 | NOS3 | c.823A>C (p.Ile275Leu) c.205A>C (p.Ile69Leu) | dbSNP |
7 | g.150998952A>G | CA369854332 | NOS3 | c.823A>G (p.Ile275Val) c.205A>G (p.Ile69Val) | |
7 | g.150998952A>T | CA369854333 | NOS3 | c.823A>T (p.Ile275Phe) c.205A>T (p.Ile69Phe) | |
7 | g.150998953T>A | CA369854334 | NOS3 | c.824T>A (p.Ile275Asn) c.206T>A (p.Ile69Asn) | |
7 | g.150998953T>C | CA369854335 | NOS3 | c.824T>C (p.Ile275Thr) c.206T>C (p.Ile69Thr) | |
7 | g.150998953T>G | CA369854336 | NOS3 | c.824T>G (p.Ile275Ser) c.206T>G (p.Ile69Ser) | |
7 | g.150998954T>A | CA458872030 | NOS3 | c.825T>A (p.Ile275=) c.207T>A (p.Ile69=) | |
7 | g.150998954T>C | CA458872031 | NOS3 | c.825T>C (p.Ile275=) c.207T>C (p.Ile69=) | |
7 | g.150998954T>G | CA369854337 | NOS3 | c.825T>G (p.Ile275Met) c.207T>G (p.Ile69Met) | |
7 | g.150998955C>A | CA369854338 | NOS3 | c.826C>A (p.Gln276Lys) c.208C>A (p.Gln70Lys) | |
7 | g.150998955C= | CA1752470755 | NOS3 | c.826C= (p.Gln276=) c.208C= (p.Gln70=) | |
7 | g.150998955C>G | CA369854339 | NOS3 | c.826C>G (p.Gln276Glu) c.208C>G (p.Gln70Glu) | |
7 | g.150998955C>T | CA4566773 | NOS3 | c.826C>T (p.Gln276Ter) c.208C>T (p.Gln70Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150998956A>C | CA369854342 | NOS3 | c.827A>C (p.Gln276Pro) c.209A>C (p.Gln70Pro) | |
7 | g.150998956A>G | CA369854340 | NOS3 | c.827A>G (p.Gln276Arg) c.209A>G (p.Gln70Arg) | |
7 | g.150998956A>T | CA369854341 | NOS3 | c.827A>T (p.Gln276Leu) c.209A>T (p.Gln70Leu) | |
7 | g.150998957G>A | CA458872045 | NOS3 | c.828G>A (p.Gln276=) c.210G>A (p.Gln70=) | dbSNP |
7 | g.150998957G>C | CA4566774 | NOS3 | c.828G>C (p.Gln276His) c.210G>C (p.Gln70His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150998957G= | CA1752470756 | NOS3 | c.828G= (p.Gln276=) c.210G= (p.Gln70=) | |
7 | g.150998957G>T | CA369854343 | NOS3 | c.828G>T (p.Gln276His) c.210G>T (p.Gln70His) | |
7 | g.150998958C>A | CA369854344 | NOS3 | c.829C>A (p.His277Asn) c.211C>A (p.His71Asn) | |
7 | g.150998958C>G | CA369854345 | NOS3 | c.829C>G (p.His277Asp) c.211C>G (p.His71Asp) | |
7 | g.150998958C>T | CA369854346 | NOS3 | c.829C>T (p.His277Tyr) c.211C>T (p.His71Tyr) | |
7 | g.150998959del | CA2685608095 | NOS3 | c.830del (p.His277ProfsTer?) c.212del (p.His71ProfsTer?) | gnomAD v4 |
7 | g.150998959A>C | CA369854347 | NOS3 | c.830A>C (p.His277Pro) c.212A>C (p.His71Pro) |